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Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report

<b>Background/Objectives</b>: Patau syndrome (trisomy 13) is a rare genetic disorder with high mortality, and poor prognosis. Patients surviving beyond infancy usually present with severe psychomotor delays, failure to thrive, intellectual disabilities and seizures. Female sex and mosaic trisomy 13...

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Autori principali: Natalia Aleksander, Adrian Bukała, Wiktoria Borowska, Katarzyna Czapla, Krzysztof Bylok, Mikołaj Magiera, Tomasz Czerwiec, Krystyna Stencel-Gabriel
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI AG 2025-12-01
Serie:Children
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Accesso online:https://www.mdpi.com/2227-9067/12/12/1632
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